NEUROLOGY

Chapter 22 – Neurotransmitter Disorders: DNAJC12-Deficient Hyperphenylalaninemia – An Emerging Neurotransmitter Disorder

Oct 19, 2020 by in NEUROLOGY Comments Off on Chapter 22 – Neurotransmitter Disorders: DNAJC12-Deficient Hyperphenylalaninemia – An Emerging Neurotransmitter Disorder

Abstract DNAJC12 deficiency is a recently described form of hyperphenylalaninemia (HPA) [1]. HPA represents a metabolic condition caused by a deficiency in either phenylalanine (Phe) hydroxylase (PAH) or in one…

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